C495Y (p.Cys495Tyr) variant of NOD2 (Q9HC29)
C495Y (p.Cys495Tyr) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature.
C495Y (p.Cys495Tyr) variant details
- p.Cys495Tyr
- rs104895478
- ClinGen CA150211
- ClinVar RCV000084089
- UniProt VAR 073237
- Pathogenic
- Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.88
- MetaLR 0.59
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Blau syndrome)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Cited in: Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (PMID 19116920)
- Cited in: NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a… (PMID 19479837)